Galactosemia: An old diagnosis with new ideas

What this episode covers

Professor Judith Fridovich-Keil has been researching galactosemia for over 20 years and it was a privilege to welcome her to the JIMD podcast. The Professor and one of her former lab students and now medical student, Jessica MacWilliams, discuss the promise of new treatments, what drives their interest in galactosemia and a new method for formally assessing fine motor control in these patients. A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups Shauna A. Rasmussen et al. https://doi.org/10.1002/jimd.12311 Hand fine motor control in classic galactosemia Jessica MacWilliams et al. https://doi.org/10.1002/jimd.12376

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Frequently Asked Questions

How long is this episode of JIMD Podcasts?

This episode is 25 minutes long.

When was this JIMD Podcasts episode published?

This episode was published on April 30, 2021.

What is this episode about?

Professor Judith Fridovich-Keil has been researching galactosemia for over 20 years and it was a privilege to welcome her to the JIMD podcast. The Professor and one of her former lab students and now medical student, Jessica MacWilliams, discuss the...

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